IndividuaI’s ID | initial diagnostic request | gender | parental consan-guinity | age at referral [months] | subcuta-neous nodule | skin abnormalities | skeletal or muscle abnormalities | pain | joint involvement | coarse facies | visceral involvement | ANTXR2 variants identified (all in homozygous state) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1013011 | ANTXR2 | male | n.r. | 8 | + | + | + | + | c.1074delT | |||
1019835 | ANTXR2 | female | n.r. | 248 | + | + | + | + | c.1180-?_1428 +?del | |||
1030796 | ANTXR2 | male | n.r. | 12 | n.r. | c.1074delT | ||||||
1034217 | ANTXR2 | female | n.r. | 13 | n.r. | c.1073dupC | ||||||
1034651 | ANTXR2 | male | yes | 6 | n.r. | c.134 T > C | ||||||
1062973 | ANTXR2 | male | yes | 8 | n.r. | c.1074delT | ||||||
1083931 | WES | female | yes | 22 | + | + | + | c.134 T > C | ||||
1111097 | ANTXR2 | male | n.r. | 4 | + | + | c.1074delT | |||||
1124610 | ANTXR2 | male | yes | 1 | + | + | + | + | c.134 T > C | |||
1160661 | ANTXR2 | female | yes | 65 | + | + | + | + | + | c.1294C > T | ||
1167266 | WES | female | yes | 16 | + | + | + | c.652 T > C | ||||
1175869 | WES | male | yes | 3 | + | + | + | + | c.720delT | |||
1205436 | ASAH1 | male | yes | 5 | + | + | + | + | + | + | c.720delT | |
1206223 | ASAH1 | male | n.r. | 18 | + | + | + | + | c.994delC | |||
1206224 | WES | male | n.r. | 17 | + | + | + | + | + | c.1073delC | ||
1218829 | ASAH1 | male | yes | 10 | + | + | + | + | + | c.1074delT | ||
1219558 | ASAH1 | female | yes | 15 | + | + | + | c.1074delT | ||||
1223185 | WES | male | n.r. | 9 | + | + | + | + | c.134 T > C | |||
1234238 | ASAH1 | male | n.r. | 8 | + | + | + | + | c.51delC |